Molecular Pathogenic Basis for GABRG2 Mutations Associated With a Spectrum of Epilepsy Syndromes, From Generalized Absence Epilepsy to Dravet Syndrome.
AUTHORS
Kang
JQ ,
Macdonald
RL ,
. JAMA neurology. 2016 8 1; 73(8). 1009-16
- PMID: 27367160 [PubMed].
- PMCID: PMC5426359.
- NIHMSID: NIHMS854906
ABSTRACT
In this review article, we focus on the molecular pathogenic basis for genetic generalized epilepsies associated with mutations in the inhibitory γ-aminobutyric acid (GABAA) receptor γ2 subunit gene, GABRG2 (OMIM 137164), an established epilepsy gene.
In this review article, we focus on the molecular pathogenic basis for genetic generalized epilepsies associated with mutations in the inhibitory γ-aminobutyric acid (GABAA) receptor γ2 subunit gene, GABRG2 (OMIM 137164), an established epilepsy gene.
Tags: 2016